Incidental Mutation 'IGL01942:Dhx35'
ID 180885
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhx35
Ensembl Gene ENSMUSG00000027655
Gene Name DEAH-box helicase 35
Synonyms 1200009D07Rik, Ddx35
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01942
Quality Score
Status
Chromosome 2
Chromosomal Location 158636727-158700134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 158673784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 405 (L405P)
Ref Sequence ENSEMBL: ENSMUSP00000105104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029186] [ENSMUST00000109478] [ENSMUST00000156893]
AlphaFold A2ACQ1
Predicted Effect probably damaging
Transcript: ENSMUST00000029186
AA Change: L405P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029186
Gene: ENSMUSG00000027655
AA Change: L405P

DomainStartEndE-ValueType
DEXDc 55 248 1.17e-18 SMART
HELICc 299 398 8.76e-18 SMART
HA2 458 549 1.49e-27 SMART
Pfam:OB_NTP_bind 628 660 2.7e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109478
AA Change: L405P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105104
Gene: ENSMUSG00000027655
AA Change: L405P

DomainStartEndE-ValueType
DEXDc 55 248 1.17e-18 SMART
HELICc 299 398 8.76e-18 SMART
HA2 458 549 1.49e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146797
Predicted Effect probably benign
Transcript: ENSMUST00000156893
SMART Domains Protein: ENSMUSP00000119497
Gene: ENSMUSG00000027655

DomainStartEndE-ValueType
PDB:3LLM|B 7 115 1e-10 PDB
Blast:DEXDc 55 119 5e-37 BLAST
SCOP:d1jpna2 63 115 3e-10 SMART
PDB:3KX2|A 116 204 1e-10 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157070
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G A 7: 45,635,997 (GRCm39) R1017W possibly damaging Het
Arhgef26 A G 3: 62,247,515 (GRCm39) R200G probably benign Het
Arid4b A T 13: 14,310,749 (GRCm39) probably benign Het
Atp1a2 A C 1: 172,113,876 (GRCm39) S369A probably benign Het
Bag3 T A 7: 128,148,024 (GRCm39) D546E probably benign Het
Bcl6b T A 11: 70,117,569 (GRCm39) Y379F probably damaging Het
Cbln2 T C 18: 86,734,450 (GRCm39) V136A probably benign Het
Ccnf A T 17: 24,461,294 (GRCm39) D120E probably benign Het
Cd14 T A 18: 36,858,693 (GRCm39) H254L possibly damaging Het
Chd3 A G 11: 69,240,931 (GRCm39) probably null Het
Csf2rb G A 15: 78,224,692 (GRCm39) R150H probably benign Het
Dpf1 G A 7: 29,015,927 (GRCm39) C383Y probably damaging Het
Dse T A 10: 34,031,989 (GRCm39) Q345L probably benign Het
Gnaz A G 10: 74,850,706 (GRCm39) M244V probably damaging Het
Gpr65 A T 12: 98,241,974 (GRCm39) Y209F possibly damaging Het
Inpp5f T C 7: 128,269,493 (GRCm39) I281T probably damaging Het
Kntc1 T C 5: 123,916,330 (GRCm39) F721S probably damaging Het
Mapk8ip2 G A 15: 89,341,220 (GRCm39) probably null Het
Med24 G A 11: 98,600,508 (GRCm39) R646W probably damaging Het
Nup98 A T 7: 101,843,918 (GRCm39) F102Y probably damaging Het
Or1n2 A G 2: 36,797,869 (GRCm39) M304V probably benign Het
Or4c35 G T 2: 89,808,322 (GRCm39) V67L probably benign Het
Or8g50 A T 9: 39,648,962 (GRCm39) M284L possibly damaging Het
Pgap3 T C 11: 98,288,780 (GRCm39) Y125C probably damaging Het
Rasl12 T C 9: 65,315,644 (GRCm39) V96A probably damaging Het
Rbm20 G A 19: 53,801,874 (GRCm39) M127I probably damaging Het
Rnf114 T A 2: 167,354,546 (GRCm39) probably null Het
Serpinb1b C T 13: 33,269,294 (GRCm39) T9I possibly damaging Het
Setd1b T A 5: 123,301,489 (GRCm39) F16I possibly damaging Het
Slc25a28 A G 19: 43,652,947 (GRCm39) F238S probably damaging Het
Slc2a2 T C 3: 28,759,952 (GRCm39) V30A probably damaging Het
Slc35f4 T C 14: 49,762,962 (GRCm39) probably benign Het
Socs4 T A 14: 47,528,107 (GRCm39) C347* probably null Het
Spock1 C T 13: 57,578,141 (GRCm39) E367K probably damaging Het
Ubap2 C T 4: 41,251,608 (GRCm39) R8H probably benign Het
Vmn1r44 T A 6: 89,870,806 (GRCm39) M41K probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfp575 T C 7: 24,285,240 (GRCm39) T134A possibly damaging Het
Other mutations in Dhx35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Dhx35 APN 2 158,669,836 (GRCm39) missense probably damaging 1.00
IGL02899:Dhx35 APN 2 158,643,370 (GRCm39) missense probably damaging 1.00
IGL02927:Dhx35 APN 2 158,662,336 (GRCm39) missense probably damaging 1.00
IGL03224:Dhx35 APN 2 158,699,052 (GRCm39) utr 3 prime probably benign
R0112:Dhx35 UTSW 2 158,682,540 (GRCm39) missense probably damaging 0.99
R0200:Dhx35 UTSW 2 158,671,543 (GRCm39) missense probably benign
R0609:Dhx35 UTSW 2 158,659,335 (GRCm39) missense possibly damaging 0.62
R0714:Dhx35 UTSW 2 158,686,103 (GRCm39) missense probably benign
R0884:Dhx35 UTSW 2 158,673,631 (GRCm39) missense probably damaging 0.97
R1775:Dhx35 UTSW 2 158,648,357 (GRCm39) missense probably damaging 1.00
R1912:Dhx35 UTSW 2 158,684,227 (GRCm39) missense probably damaging 0.96
R2136:Dhx35 UTSW 2 158,673,781 (GRCm39) missense probably damaging 1.00
R4094:Dhx35 UTSW 2 158,684,276 (GRCm39) missense probably damaging 1.00
R4364:Dhx35 UTSW 2 158,684,272 (GRCm39) nonsense probably null
R4421:Dhx35 UTSW 2 158,648,321 (GRCm39) missense probably damaging 1.00
R4565:Dhx35 UTSW 2 158,691,455 (GRCm39) missense probably benign 0.01
R5517:Dhx35 UTSW 2 158,676,832 (GRCm39) missense probably damaging 1.00
R5732:Dhx35 UTSW 2 158,673,705 (GRCm39) missense probably damaging 0.99
R5979:Dhx35 UTSW 2 158,684,789 (GRCm39) missense probably benign 0.29
R6054:Dhx35 UTSW 2 158,660,219 (GRCm39) missense probably benign 0.00
R6405:Dhx35 UTSW 2 158,636,839 (GRCm39) missense probably damaging 1.00
R6452:Dhx35 UTSW 2 158,673,607 (GRCm39) missense probably damaging 1.00
R6519:Dhx35 UTSW 2 158,673,630 (GRCm39) missense probably damaging 0.97
R8700:Dhx35 UTSW 2 158,682,552 (GRCm39) missense possibly damaging 0.61
R8894:Dhx35 UTSW 2 158,676,795 (GRCm39) missense possibly damaging 0.77
R8906:Dhx35 UTSW 2 158,648,918 (GRCm39) missense possibly damaging 0.90
R8960:Dhx35 UTSW 2 158,657,393 (GRCm39) missense possibly damaging 0.83
R9349:Dhx35 UTSW 2 158,671,444 (GRCm39) missense possibly damaging 0.94
R9765:Dhx35 UTSW 2 158,671,501 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07